D55D (p.Asp55Asp) variant of PSEN2 (Presenilin-2)
D55D (p.Asp55Asp) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D55D (p.Asp55Asp) variant details
- p.Asp55Asp
- rs139332886
- gnomAD 1-226883728-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 3.28
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available